Benign Infantile Convulsions Research Articles

A Novel Neuroimaging Phenotype in the Pediatric Paroxysmal Kinesigenic Dyskinesia

AbstractParoxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements which can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis syndrome. We present a case of hyperkinetic movement disorder in the form of choreoathetosis, ballismus, dystonia triggered by sudden movements with a past history of benign infantile convulsions in a 12-year-old girl. The contrast-enhanced brain and spine magnetic resonance imaging showed bilaterally symmetric superior cerebellar cytotoxic edema sparing the vermis with swollen cerebellar foliae. Whole-exome sequencing identified a homozygous frameshift duplication NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8) in the PRRT2 gene. This case report highlights the frameshift duplication in the PRRT2 gene and rare neuroimaging findings which further expand the phenotypic characteristics of PKD in children.

Correlation between serum zinc and brain injury in infants with mild gastroenteritis complicated with benign infantile convulsion and febrile convulsion

To investigate the association between serum zinc levels and convulsive brain injury in infants with mild gastroenteritis complicated with benign infantile seizures (BICE) and febrile seizures (FC). A case-control study method was conducted. 120 children with mild gastroenteritis and convulsion admitted to the First Affiliated Hospital of Hebei North University from January 2020 to January 2022 were enrolled as the research subjects. They were divided into BICE group and FC group according to the type of convulsion. The serum zinc level, the frequency and duration of convulsion, and the occurrence of convulsive brain injury in the two groups were recorded. Multivariate Logistic regression analysis was used to screen the risk factors for convulsive brain injury. The Spearman correlation method was used to analyze the association between serum zinc levels, clinical characteristics of convulsion and convulsive brain injury. A total of 120 children were enrolled, of which 81 developed to BICE and 39 developed to FC during hospitalization. The serum zinc level of children in the FC group was significantly lower than that in the BICE group (μmol/L: 39.24±6.50 vs. 48.65±7.21, P < 0.01). In the BICE group and FC group, the serum zinc level in children with more than 2 convulsions was significantly lower than that in the children with one convulsion (μmol/L: 37.65±6.50 vs. 53.17±7.55 in the BICE group, and 30.27±5.58 vs. 44.16±7.57 in the FC group, both P < 0.01). Serum zinc level in children with convulsion duration ≥ 5 minutes was significantly lower than that in the children with convulsion duration < 5 minutes (μmol/L: 38.75±6.74 vs. 51.21±7.58 in the BICE group, and 31.08±5.46 vs. 45.19±7.25 in the FC group, both P < 0.01). Moreover, the serum zinc level of children with different convulsion frequency and duration in the FC group was significantly lower than that in the BICE group (all P < 0.01). Among the 120 children, 9 cases of convulsive brain injury occurred, and the incidence rate was 7.50%. The incidence of convulsive brain injury in the BICE group was 1.23% (1/81), which was significantly lower than 20.51% in the FC group (8/39, P < 0.01). The serum zinc level of children with convulsive brain injury was significantly lower than that of children with non-brain injury (μmol/L: 28.50±5.00 vs. 60.22±7.31, P < 0.01), and the number of convulsion was significantly higher than that of non-cerebral injury (≥ 2 convulsions: 100.00% vs. 1.80%, P < 0.01), and the duration of convulsion in children with brain injury was significantly longer than that of non-brain-injured children (convulsion duration ≥ 5 minutes: 100.00% vs. 11.71%, P < 0.01). Multivariate Logistic regression analysis showed that decreased serum zinc level [odds ratio (OR) = 2.147, 95% confidence interval (95%CI) was 1.354-3.403], increased number of convulsion (OR = 3.452, 95%CI was 1.266-9.417), and prolonged convulsion duration (OR = 3.117, 95%CI was 1.326-7.327) were independent risk factor for convulsive brain injury in children with mild gastroenteritis and convulsion (all P < 0.05). Spearman correlation analysis showed that serum zinc level, convulsion ≥ 2 times, duration of convulsion ≥ 5 minutes and convulsion ≥ 2 times + convulsion duration ≥ 5 minutes were significantly negatively correlated with the occurrence of convulsive brain injury in FC children (r values were -0.546, -0.517, -0.522, and -0.528, all P < 0.01). There was no significant correlation between serum zinc level, convulsion ≥ 2 times, convulsion duration ≥ 5 minutes and convulsion ≥ 2 times+convulsion duration ≥ 5 minutes and convulsive brain injury in BICE children (r values were -0.281, -0.129, -0.201, -0.243, all P > 0.05). Serum zinc level is related to the characteristics of convulsive symptoms in children with mild gastroenteritis complicated with FC, and has a strong negative correlation with the occurrence of convulsive brain injury. Active targeted intervention and treatment may help reduce the incidence of brain injury in children.

Study of the Impact of Air Pollution on Convulsions in Children: A Hospital-Based Retrospective Study in Hangzhou, China.

To investigate the relationship between the occurrence of convulsions in children and air pollution in Hangzhou. From January 1, 2018, to December 31, 2020, 775 children admitted with convulsion to the pediatric outpatient clinic of The Affiliated Hospital of Hangzhou Normal University (Hangzhou, China) were enrolled in this study. The clinical data and the corresponding weather data of the day in Hangzhou were collected and analyzed. Also, the monthly etiological classification of convulsions and the monthly average air data of Hangzhou were statistically analyzed. The highest incidence of convulsion was observed in children 1 to 2 years old, and higher in boys than in girls. The top three main causes were febrile seizure, benign infantile convulsion with mild gastroenteritis, and epilepsy. Among the meteorological factors, the increase in the level of 2.5 micron particulate matter (PM 2.5) in the air per month led to an increase in the number of patients with febrile seizure, benign infantile convulsion with mild gastroenteritis, and epilepsy, where the increase of ozone in 8 hours (O3-8h) per month led to a decrease in the number of patients with such conditions. PM2.5, PM10, and SO2 are the main meteorological factors affecting the occurrence of convulsions in children in Hangzhou, and PM2.5 and SO2 are risk factors. The increase in the level of PM2.5 in the air per month could increase occurrence of child convulsions, but the increase of O3-8h per month could decrease occurrence of child convulsions.

Analysis on the etiology of seizures in a cohort of 975 children admitted to a pediatric emergency department

Objective To document the etiologies of seizures in children admitted to the pediatric observation unit of an inner city hospital in China. Methods A total of 975 children (aged 1 month to 18 years old) admitted to the pediatric observation unit of Guangzhou Women and Children's Medical Center between October, 2013 and October, 2014 with seizures were evaluated restrospectively. Results A total of 975 patients were included in this study.The causes of seizures were febrile seizures(588 cases, 60.3%), epilepsy(163 cases, 16.7%), and benign infantile convulsions associated with mild gastroenteritis(111 cases, 11.4%). The main causes of seizures for children less than one year old were febrile seizures(75 cases, 34.1%) and epilepsy(75 cases, 34.1%), following by the intracranial infection(22 cases, 10.0%). Febrile seizures also predominated the causes of seizures among children between one and six years old(487 cases, 70.3%), whereas benign infantile convulsions associated with mild gastroenteritis accounting for 14.0%(97 cases) of all causes.Meanwhile, the leading causes of seizures for children of six years or older were febrile seizures(26 cases, 41.9%) and epilepsy(20 cases, 32.3%). Conclusion Febrile seizures is the leading cause of seizures among children.Contrast to previous studies, the proportions of epilepsy and benign infantile convulsions associated with mild gastroenteritis are increasing, while the proportion of intracranial infection is reducing.Rapid assessment and accurately identifying the etiology play an important role in the management of seizures. Key words: Pediatric observation unit; Seizures; Etiologies

Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl.

Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.

以轻度胃肠炎起病的婴幼儿惊厥临床分析

目的：回顾内蒙古自治区人民医院儿科以轻度胃肠炎起病的婴幼儿惊厥病例，分析其临床特点。方法：对临床以轻度胃肠炎起病，病程中出现惊厥的患儿52例(女孩33例，男孩19例)进行临床观察和分析，并且随访至少3月。结果：所有观察患儿起病年龄是4~30月，男女比例是1.74。其中单次惊厥42例，发生2次以上惊厥10例；惊厥发生时间在胃肠炎起病平均2.37天；病人平均就诊次数为1.81次；全部病例进行脑电图检查，其中脑电图异常8例；全部病例中的48例(92.31%)进行了头颅影像学检查，头颅CT检查22例，头颅MRI检查26例，头颅CT检查均正常，仅3例在头颅MRI检查中发现轻度的脑外间隙增宽，轮状病毒抗体阳性20例(38.46%)。所有病例随访3~6月，再次惊厥1例。结论：婴幼儿期的轻度胃肠炎需警惕惊厥发生，大多预后良好。 Purpose: To analyze the electroclinical features with mild gastroenteritis onset benign infantile convulsions from the Inner Mongolia Autonomous Region People’s Hospital. Methods: We re-viewed and analyzed the medical records of 52 patients (33 females and 19 males) diagnosed with mild gastroenteritis onset benign infantile convulsions and followed-up for at least 3 months. Results: The age of onset was 4 - 30 months and the female/male ratio was 1.74. There are 42 cases of single seizures, and 10 cases of multiple seizures. The average interval between the onset of gastroenteritis and seizures was 2.37 days. The average of the patients visit times was 1.81. Interictal electroencephalographic studies were accomplished in 52 patients. The EEG was abnormal in 8 patients (15.38%). Neuroimaging studies were accomplished in 48 patients (92.31%), cranial CT in 22 patients and MRI in 26 subjects. All CT results were normal. MRI results showed that 3 cases presented with an enlarged extra cerebral space in the temporal lobe. Rotavirus antigen was positive in stools in 20 cases (38.46%). Only 1 out of all patients suffered from recurrence of seizures during 3 - 6-month follow-up. Conclusions: The infant stage mild gastroenteritis needs to be mindful of convulsions. Most of the BICE’s prognosis is good.

Etiology and clinical analysis of central nervous system infection caused by Human Rhinovirus in children

Objective To discuss the etiology and clinical characteristics of human rhinovirus (HRV) as pathogen of central nervous system infection. Methods Two hundred and five cerebrospinal fluid (CSF) specimens were collected from children with fever and convulsions who were admitted to the pediatric intensive care unit with suspicion of central nervous system infection from June 2011 to December 2012. Genome Lab Genetic Analysis System (GeXP) was applied to detect HRV from CSF. Specimens with positive results were amplified by nested reverse transcription-polymerase chain reaction and followed by gene sequencing. Clinical data of HRV positive cases were analyzed. Results Of the 205 CSF specimens, 7 samples were positive for HRV, which were composed of 2 HRV-A, 1 HRV-B and 4 HRV-C (including 1 HRV-Ca). There were 6 boys and 1 girl among the 7 positive cases for HRV. Six children were less than 3 years old, except one was 9 years old. The onset time was mainly concentrated between September and October. The main clinical manifestations were fever and convulsions. The clinical diagnosis before the pathogen confirmation included viral encephalitis, epilepsy, febrile convulsion, benign infantile convulsions with mild gastroenteritis (CwG) and hand-foot-and-mouth disease (HFMD). Although the disease severity of the 7 cases varied, all ended with favorable prognosis. Conclusions HRV is one of pathogens of viral central nervous system infection. All types of HRV can cause central nervous system infection, among which HRV-C accounts for the majority. The clinical manifestations of HRV central nervous system infection could mimic febrile convulsion, CwG and HFMD. Key words: Rhinovirus; Encephalitis, viral; Child; Genotypic assay, Clinical analysis

Infantile spasm: an overview

Infantile spasm (IS) is the archetypal catastrophic childhood epilepsy syndrome. It is catastrophic for two reasons: first, it is difficult to control and second, it is strongly associated with mental retardation. In some cases, profound mental retardation is an inevitable consequence of the underlying disease; for example, lissencephaly. In other cases, the developmental outcome may be improved by controlling the seizures. Thus, early diagnosis and treatment is important. IS has a characteristic clinical presentation with flexor spasms beginning in the first year of life. The diagnosis of IS is confirmed by the electroencephalogram (EEG), which typically demonstrated hypsarrhythmia, modified hypsarrhythmia or multifocal spikewave discharges. A normal EEG should raise the possibility of one of the benign infantile seizure disorders such as benign neonatal convulsions, benign infantile familial convulsions or benign infantile myoclonus. Having identified IS clinically and confirmed

Research advances in benign infantile convulsions associated with mild gastroenteritis

Benign infantile convulsions associated with mild gastroenteritis (BICE), known as convulsions with mild gastroenteritis, is a kind of non-febrile convulsions disease associated with acute infantile gastroenteritis.Patients with BICE often have mild gastroenteritis and tonic-clonic seizure manifestation, but no apparent disturbance of water, electrolyte and acid base was observed.BICE, the main etiological agent of which is Rotavirus, is a kind of self-limited disease with favorable prognosis, and no requiring of continuous anticonvulsant treatment. Key words: Gastroenteritis; Seizure; Rotavirus; Infant

Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis

To analyze the phenotypes and proline-rich transmenbrane protein 2 (PRRT2) gene mutations in patients of infantile convulsions with paroxysmal choreoathetosis (ICCA). Clinical data were collected from ICCA patients and their family members. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations of PRRT2 were screened using PCR amplification and Sanger sequencing. Eleven families and one sporadic case with ICCA were recruited in this study. In 11 ICCA families, 49 family members were affected, of which 15 individuals had benign infantile convulsions (BIC) alone, 18 individuals had only paroxysmal kinesigenic dyskinesia(PKD), and 16 individuals had BIC followed by PKD. The seizure onset age of infantile convulsions was between 3 and 12 months. The onset age of PKD was ranging from 5 to 17 years old. Four affected members in two ICCA families had PKD or ICCA co-existing with migraine. The one sporadic ICCA case had afebrile seizures between 3.5 and 4 months, and developed paroxysmal twists of limbs after 3 years and 9 months of age. He had good response to treatment with oxcarbazepine at the age of 4 years and 10 months. PRRT2 mutations were identified in all 11 ICCA families. The most common mutation, c.649_650insC (p.R217PfsX8), was detected in 6 of the 11 families (54.5%). PRRT2 mutation (c.649_650insC) was also found in the sporadic ICCA case, and was identified as de novo mutation. The phenotype of PKD in ICCA families occurred in childhood or adolescence. Few affected members in some ICCA families may have migraine. PRRT2 is the causative gene of ICCA and the mutation c.649_650insC was the hotspot of PRRT2 mutations. PRRT2 mutation was also found in sporadic case with ICCA.

Benign infantile convulsions with mild gastroenteritis：clinical and prognosis analysis of 248 cases

Objective To explore the clinical characteristics and the prognosis of benin convulsions as-sociated with mild gastroenteritis（ BICE） in children. Methods To study clinical features of 248 children with BCIE,they followed up for 12 months,and their prognosis were observe. Results Age between 3 months and 3 years,twice or more seizures were occurred on 124 patients. 64 patients suffered the seizures more than 30 mi-nutes. Cranial CT/MRI showed no abnormality. Laboratory examinations were normal, including plasma glu-cose,serum electrolytes and cerebrospinal fluid. Followed up for 12 months,14 patients （5. 6%） suffered from recurrence of BICE,12 patients （4. 8%） suffered from simple febrile seizures,and 8 patients （3. 2%） devel-oped epilepsy. Conclusion The prognosis is good in majority of cases,but some cases may transform febrile seizure or epilepsy. It is more likely to transform epilepsy,when the children suffer from febrile seizure. Key words: Gastroenteritis; Convulsion; Epilepsy; Infants

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.

Benign infantile convulsions associated with mild gastroenteritis: An electroclinical study of 34 patients

PurposeTo analyze the electroclinical features and evolution of patients diagnosed with convulsions with mild gastroenteritis (CwG) from southwest China. MethodsWe reviewed and analyzed the medical records of 34 patients (13 males) diagnosed with CwG and followed-up for at least 12 months. ResultsThe age of onset was 6–29 months and the female/male ratio 1.62. Seizures were generalized in 32 cases. Single seizures in 15 cases were <5min and multiple seizures 24–48h after seizure onset were seen in 18 cases. Seizure duration was <1min in 32.35%, between 1 and 5min in 55.88%, and between 5 and 10min in 8.82% of seizures. The average interval between the onset of gastroenteritis and seizures was 2.47 days. Rotavirus antigen was positive in stools in 26.47% of cases. During the acute phase, diazepam and phenobarbital as first-line treatment were effective in 25% and 83.33% of cases, respectively. Fourteen patients showed non-specific anomalies in the interictal electroencephalography. During 12–36 months follow-up, 33 cases showed normal psychomotor development and no seizures. ConclusionsCwG occurred mostly in toddlers. During the acute phase, phenobarbital is more effective in controlling seizures. For a good prognosis, it is unnecessary to administrate long-term anticonvulsants.

Unlocking the genetics of paroxysmal kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD, or paroxysmal kinesigenic choreoathetosis) is a rare and remarkable hereditary disorder that was recognized as early as 1892 and defined more precisely during the 20th century (Mount and Reback, 1940; Kertesz, 1967; Richards and Barnett, 1968; Lance, 1977; Kato et al ., 2006). Patients with PKD experience recurrent and brief episodes of dystonic or choreoathetotic involuntary movements that are induced by sudden motion, such as standing up quickly or being startled (Bruno et al ., 2004; Bhatia, 2011). Although this disorder can be very disabling if undiagnosed, its outcome is usually benign when treated with low doses of anti-convulsants such as carbamazepine or phenytoin. Most patients with primary idiopathic forms of PKD report a family history of the disease compatible with autosomal dominant inheritance. The first locus for PKD, identified in 1999 on chromosome 16p11.2-q12.1 (EKD1, Fig. 1) overlaps with another locus identified for infantile convulsions and paroxysmal choreoathetosis (ICCA) (Szepetowski et al ., 1997; Tomita et al ., 1999). ICCA is also inherited in an autosomal dominant fashion and is characterized by benign afebrile infantile convulsions that start within the first year of life and usually stop by 3 years of age, variably associated with paroxysmal dyskinesia (Table 1). Benign familial infantile convulsions, ICCA and PKD have thus been proposed to be different expressions of the same disorder or allelic disorders (Caraballo et al ., 2001). Linkage of families with PKD, ICCA and benign familial infantile convulsions to the same region on chromosome 16 has been confirmed by many groups, but despite the sequencing of the 157 genes contained in the region, the causative one has remained a mystery for more than a decade (Kikuchi et al ., 2007). Figure 1 Schematic representation of chromosome 16, showing the overlapping loci …

Benign convulsions in newborns and infants: Occurrence, clinical course and prognosis

Background During early development severe epilepsies may appear, some with well established occurrence. Benign non-epileptic and epileptic paroxysmal syndromes with excellent prognosis occur in the same period. There are no exact data on their occurrence. Aim We have reviewed medical histories of children with benign non-epileptic or benign epileptic events: benign myoclonus of early infancy, benign neonatal sleep myoclonus, benign sleep myoclonus in infancy, benign partial epilepsy in infancy (BPEI) and benign infantile familial convulsions (BIFC) were established. The occurrence, clinical characteristics and prognosis of these syndromes were evaluated. Methods Inclusion criteria were met in 31 children. Research included retrospective analysis of clinical characteristics, laboratory values, neuroimaging and neurophysiological assessments, followed by evaluation of psychosocial development with the use of the Strengths and Difficulties Questionnaire (SDQ), fulfilled by parents. Results In our group the incidence of benign non-epileptic convulsions was 6.69 per 10 000 live births and the incidence of benign epileptic convulsions was 1.35 per 10 000. Male/female ratio in the group of children with non-epileptic events was 2.1:1. Among non-epileptic group 5 out of 23 children and among epileptic group 3 out of 8 children had minimal, mild or moderate abnormalities at neurological assessment at the time of the first clinical examination. Nonspecific changes in laboratory values were seen in 6 out of 23 in the non-epileptic and in 1 out of 8 children in the epileptic group. Neurophysiological assessments showed subtle changes in 4/23 in the non-epileptic and 6/8 in the epileptic group. Neuroimaging was not optimal in 5/23 with non-epileptic and 3/8 with epileptic events. Analysis of SDQ did not show significant deviations in psyhosocial development. Statistically significant deviation was observed only in relations with peers ( p = 0.009). Conclusions Benign neonatal and infantile convulsions are more frequent than severe epilepsies of the same age period. Results show higher proportion of males with benign non-epileptic conditions. No deviations in further development was found. Laboratory values, neuroimaging and neurophysiological assessments were normal or nonspecifically changed.

Norovirus Gastroenteritis and Seizures: An Atypical Case with Neuroradiological Abnormalities

We describe an 8-year-old boy admitted because of prolonged seizures during norovirus gastroenteritis without any signs of encephalopathy. Blood tests were normal and cerebrospinal fluid examination resulted negative for both bacteria and viruses. A reverse transcriptase polymerase chain reaction revealed norovirus RNA in a stool sample. A cerebral computed tomography turned out to be normal whereas subsequent cerebral magnetic resonance imaging showed transitory signal abnormalities consistent with vasogenic edema. The post-ictal electroencephalogram revealed normal background activity with sporadic left posterior delta waves. The child was discharged after 10 days with an unremarkable physical examination. A cerebral magnetic resonance imaging and an electroencephalogram after 1 month were both negative. We report a new case of benign infantile convulsions due to norovirus gastroenteritis with neuroradiological abnormalities to the pertinent literature in order to improve knowledge about this disorder and increase the possibility of clarifying its pathogenesis.

Convulsions infantiles bénignes familiales et non familiales : une entité homogène ?

Among the epileptic syndromes occurring during infancy, which are mostly non-idiopathic and associated with a poor prognosis, benign infantile convulsions are characterized by a favourable evolution. This work aims to analyse and compare the clinical, EEG and outcome characteristics of familial benign infantile convulsions (FBIC) and non-familial benign infantile convulsions (NFBIC). This is a retrospective study, conducted between 1988 and 2008, in 40 infants who presented benign infantile seizures during the two first years of life. All of them had no personal history, normal psychomotor development, normal neurological examinations, no abnormalities on biological and radiological investigations and a favourable outcome. In 14 cases, there was a familial history of familial benign infantile convulsions. However, among the 26 cases with non-familial benign infantile convulsions, 11 children had a familial history of other epileptic syndrome. That may suggest a genetic familial susceptibility. In the two groups, the clinical features and the electroencephalography were similar. The seizures had short duration and occurred most often in clusters. Twenty-nine children had secondarily generalized partial seizures and 11 infants had generalized seizures but a focal onset cannot be excluded. The antiepileptic drugs allowed rapid resolution of seizures. One child necessitated a prolonged antiepileptic treatment. In the other cases, seizures cured in the first year without recurrence of seizures after treatment discontinuation. The evolution was characterised in five children by a later occurrence of dystonia. This subgroup was described as infantile convulsion and choreoathetosis syndrome (ICCA). Benign infantile convulsions are probably an underestimated epileptic syndrome. The diagnosis is relatively easy in the familial forms with dominant autosomal transmission. In contrast, in sporadic forms, the diagnosis can be confirmed only by the evolution. The good prognosis must be tempered by the subsequent onset of dystonia consisted in the ICCA syndrome and justifies a prolonged follow-up.

P01.8 Serum S100B levels in children with simple febrile seizures

Results: The incidence of benign convulsion is 8,046/10,000 live births. 65% of included children were male, 26% had minimal, mild or moderate abnormalities in neurological evaluation at the time of first clinical examination. For a similar percentage we found nonspecific changes in laboratory values (23%), neurophysiological assessments (32%) and neuroimaging (26%). Spontaneous remission of seizures were observed in 38% of children with BPEI/BIFC. Analysis of SDQ did not show significant deviations in psyhosocial development. Statistically significant deviation was observed only in relations with peers (p=0.009). Conclusions: Benign neonatal and infantile convulsions are more frequent than severe epilepsies. Results show higher proportion of males with these conditions and no deviations in further development. Laboratory values, neuroimaging and neurophysiological assessments are normal or nonspecifically changed. Antiepileptic treatment is justified in a portion of children diagnosed with BPEI/BIFC.

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

BackgroundBenign infantile convulsions and paroxysmal dyskinesia are episodic cerebral disorders that can share common genetic bases. They can be co-inherited as one single autosomal dominant trait (ICCA syndrome); the disease ICCA gene maps at chromosome 16p12-q12. Despite intensive and conventional mutation screening, the ICCA gene remains unknown to date. The critical area displays highly complicated genomic architecture and is the site of deletions and duplications associated with various diseases. The possibility that the ICCA syndrome is related to the existence of large-scale genomic alterations was addressed in the present study.Methodology/Principal FindingsA combination of whole genome and dedicated oligonucleotide array comparative genomic hybridization coupled with quantitative polymerase chain reaction was used. Low copy number of a region corresponding to a genomic variant (Variation_7105) located at 16p11 nearby the centromere was detected with statistical significance at much higher frequency in patients from ICCA families than in ethnically matched controls. The genomic variant showed no apparent difference in size and copy number between patients and controls, making it very unlikely that the genomic alteration detected here is ICCA-specific. Furthermore, no other genomic alteration that would directly cause the ICCA syndrome in those nine families was detected in the ICCA critical area.Conclusions/SignificanceOur data excluded that inherited genomic deletion or duplication events directly cause the ICCA syndrome; rather, they help narrowing down the critical ICCA region dramatically and indicate that the disease ICCA genetic defect lies very close to or within Variation_7105 and hence should now be searched in the corresponding genomic area and its surrounding regions.

Detection of cytokines in serum and cerebrospinal fluid in children with benign infantile convulsions and mild gastroenteritis

Objective To explore the changes of cytokines in serum and cerebrospinal fluid (CSF) in children with benign infantile convulsions and mild gastroenteritis. Methods Serum SIL-2R,IL-enteritis and from 30 children with rotavirus enteritis alone within 3 cays; the cytokines were also collected from those with benign convulsions. 25 nonconvulsive children were selected as control. Results Serum levels of SIL-2R,IL-6,and IL-8 in the acute phase and recovery phase did not differ significantly between the children with benign convulsions and those with enteritis alone. Serum and CSF levels of SIL-2R,IL-6,and IL-8 in the acute phase differed significantly between the the group with convulsions and the control group. Serum levels of SIL2R,IL-6,and IL-8 differed significantly different in the convulsive childre n with varying degrees of dehydration,but the CSF levels of those cytokines had no difference. Conclusions Immune imbalance exists in children with benign infantile convulsions and mild gastroenteritis,and causes pathophysiological changes in the nerve cells. Dynamic detection of cytokines,especially the changes in SIL-2R and IL-6,provides cytological support for predicting prognosis and development of the disease. Key words: Gastroenteritis; Convulsions; Interleukin